Works matching DE "HEMOGLOBINOPATHY genetics"
Results: 47
A novel α<sup>0</sup>‐thalassemia deletion in a Brazilian child with Hb H disease: −−<sup>Mococa</sup>.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
The role of molecular diagnostic testing for hemoglobinopathies and thalassemias.
- Published in:
- International Journal of Laboratory Hematology, 2023, v. 45, p. 71, doi. 10.1111/ijlh.14089
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- Publication type:
- Article
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
- Published in:
- International Journal of Laboratory Hematology, 2022, v. 44, p. 28, doi. 10.1111/ijlh.13885
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- Publication type:
- Article
Hemoglobin Andrew‐Minneapolis‐Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β‐thalassemia trait: A diagnostic and management conundrum.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
β‐Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program.
- Published in:
- International Journal of Laboratory Hematology, 2021, v. 43, n. 3, p. 500, doi. 10.1111/ijlh.13406
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- Publication type:
- Article
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
- Published in:
- International Journal of Laboratory Hematology, 2020, v. 42, n. 4, p. 482, doi. 10.1111/ijlh.13232
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- Publication type:
- Article
Differentiation of homozygous hemoglobin E and hemoglobin E‐β<sup>0</sup>‐thalassemia in children.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.
- Published in:
- International Journal of Laboratory Hematology, 2019, v. 41, n. 2, p. 218, doi. 10.1111/ijlh.12948
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- Publication type:
- Article
Co-inheritance of α<sup>0</sup>-thalassemia elevates Hb A<sub>2</sub> level in homozygous Hb E: Diagnostic implications.
- Published in:
- International Journal of Laboratory Hematology, 2017, v. 39, n. 5, p. 508, doi. 10.1111/ijlh.12677
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- Publication type:
- Article
Co-heredity of silent CAP + 1570 T>C ( HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia.
- Published in:
- International Journal of Laboratory Hematology, 2016, v. 38, n. 1, p. 17, doi. 10.1111/ijlh.12433
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- Publication type:
- Article
Rare hemoglobin variants in Tunisian population.
- Published in:
- International Journal of Laboratory Hematology, 2015, v. 37, n. 2, p. 148, doi. 10.1111/ijlh.12259
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- Publication type:
- Article
State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies.
- Published in:
- International Journal of Laboratory Hematology, 2014, v. 36, n. 1, p. 1, doi. 10.1111/ijlh.12108
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- Publication type:
- Article
Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies.
- Published in:
- International Journal of Laboratory Hematology, 2013, v. 35, n. 6, p. 571, doi. 10.1111/ijlh.12086
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- Publication type:
- Article
Hemoglobin variants and high-performance liquid chromatography.
- Published in:
- International Journal of Laboratory Hematology, 2013, v. 35, n. 5, p. e13, doi. 10.1111/ijlh.12052
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- Publication type:
- Article
Complex neonatal hemoglobin pattern due to co-inheritance of Hb Q-Thailand and Hb E.
- Published in:
- International Journal of Laboratory Hematology, 2013, v. 35, n. 5, p. e29, doi. 10.1111/ijlh.12062
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- Publication type:
- Article
Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls.
- Published in:
- International Journal of Laboratory Hematology, 2013, v. 35, n. 5, p. 465, doi. 10.1111/ijlh.12037
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- Publication type:
- Article
Prenatal and newborn screening for hemoglobinopathies.
- Published in:
- International Journal of Laboratory Hematology, 2013, v. 35, n. 3, p. 297, doi. 10.1111/ijlh.12076
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- Publication type:
- Article
Visual Inspection of Chromatograms Assists Interpretation of HbA<sub>1c</sub>: A Case Report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Synergistic Effect of Simvastatin and Romidepsin on Gamma-globin Gene Induction.
- Published in:
- Cell Journal (Yakhteh), 2019, v. 20, n. 4, p. 576, doi. 10.22074/cellj.2019.5589
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- Publication type:
- Article
Preliminary Identification of Hemoglobin Q-Iran in an Iranian Family from Central Province of Iran by Globin Chain Analysis on HPLC.
- Published in:
- Archives of Iranian Medicine (AIM), 2013, v. 16, n. 12, p. 739
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- Publication type:
- Article
Efficient correction of hemoglobinopathy-causing mutations by homologous recombination in integration-free patient iPSCs.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Unlocking the link between haptoglobin polymorphism and noninfectious human diseases: insights and implications.
- Published in:
- Critical Reviews in Clinical Laboratory Sciences, 2024, v. 61, n. 4, p. 275, doi. 10.1080/10408363.2023.2285929
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- Publication type:
- Article
Hemoglobinopathies, G6PD Deficiency, and Hereditary Elliptocytosis in Bahrain.
- Published in:
- Human Biology, 2004, v. 76, n. 5, p. 779, doi. 10.1353/hub.2005.0004
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- Publication type:
- Article
Protection Afforded by Sickle-Cell Trait (Hb AS): What Happens when Malarial Selection Pressures....
- Published in:
- Human Biology, 2001, v. 73, n. 4, p. 583, doi. 10.1353/hub.2001.0053
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- Publication type:
- Article
Hemoglobinopathies in the North of Morocco: Consanguinity Pilot Study.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/6857417
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- Publication type:
- Article
The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 9, p. 499, doi. 10.1007/s100380170030
- By:
- Publication type:
- Article
OLMSTED SYNDROME: REPORT OF TWO CASES.
- Published in:
- Indian Journal of Dermatology, 2011, v. 56, n. 5, p. 591, doi. 10.4103/0019-5154.87166
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- Publication type:
- Article
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β -Thalassemia Mutations in the Tunisian Population.
- Published in:
- Hemoglobin, 2015, v. 39, n. 4, p. 251, doi. 10.3109/03630269.2015.1041605
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- Publication type:
- Article
Hb Feilding [ β12(A9)Thr → Pro; HBB: c.37A>C]: A Novel Unstable β-Globin Chain Variant.
- Published in:
- Hemoglobin, 2015, v. 39, n. 1, p. 49, doi. 10.3109/03630269.2014.999082
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- Publication type:
- Article
Detection of Hb Setif in North Iran and the Question of Its Origin: Iranian or Multiethnic??
- Published in:
- Hemoglobin, 2011, v. 35, n. 2, p. 152, doi. 10.3109/03630269.2011.557461
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- Publication type:
- Article
Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques.
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- Hemoglobin, 2008, v. 32, n. 4, p. 411, doi. 10.1080/03630260802173791
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- Publication type:
- Article
Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): A 27-year experience.
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- Journal of Medical Screening, 2013, v. 20, n. 4, p. 177, doi. 10.1177/0969141313507919
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- Publication type:
- Article
Screening for haemoglobinopathies on cord blood: laboratory and clinical experience.
- Published in:
- Journal of Medical Screening, 2012, v. 19, n. 3, p. 116, doi. 10.1258/jms.2012.011107
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- Publication type:
- Article
A Rare α-chain Variant Hb Fontainebleau in an Adult Male - Lessons Learnt.
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- Online Journal of Health & Allied Sciences, 2023, v. 22, n. 4, p. 1
- By:
- Publication type:
- Article
Abdominal pain in a patient with sickle cell disease with multiple complications.
- Published in:
- Türk Pediatri Arşivi, 2019, v. 54, n. 4, p. 267, doi. 10.14744/TurkPediatriArs.2018.05668
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- Publication type:
- Article
Common Hemoglobinopathies for Couples Premarital Individual and its Influence on Hemostasis and Immune State.
- Published in:
- Medico-Legal Update, 2021, v. 21, n. 2, p. 529, doi. 10.37506/mlu.v21i2.2736
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- Publication type:
- Article
Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study.
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 635, doi. 10.1007/s10897-017-0159-7
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- Publication type:
- Article
Exercise Capacity and Biomarkers Among Children and Adolescents With Sickle Cell Disease.
- Published in:
- Pediatric Exercise Science, 2023, v. 35, n. 2, p. 84, doi. 10.1123/pes.2021-0188
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- Publication type:
- Article
Hämoglobinvarianten - Pathomechanismus, Symptome und Diagnostik Hemoglobin variants - pathomechanism, symptoms and diagnosis.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2015, v. 39, n. 5, p. 311, doi. 10.1515/labmed-2015-0043
- By:
- Publication type:
- Article
Pattern of ß-Thalassemia and Other Haemoglobinopathies: A Cross-Sectional Study in Bangladesh.
- Published in:
- ISRN Hematology, 2012, p. 1, doi. 10.5402/2012/659191
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- Publication type:
- Article
Selenium Status and Hemolysis in Sickle Cell Disease Patients.
- Published in:
- Nutrients, 2019, v. 11, n. 9, p. 2211, doi. 10.3390/nu11092211
- By:
- Publication type:
- Article
Internet-based approach to population screening for common hemoglobinopathies in United Arab Emirates.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 295, doi. 10.1038/ng.785
- By:
- Publication type:
- Article
First Observation of Hemoglobin Kansas [βO2(G4)Asn→Thr, AAC>ACC] in the Turkish Population.
- Published in:
- Turkish Journal of Hematology, 2015, v. 32, n. 4, p. 374, doi. 10.4274/tjh.2015.0177
- By:
- Publication type:
- Article
First Observation of Hemoglobin Jabalpur [Beta 3 (NA3) Leu>Pro] in the Turkish Population.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Red blood cell mechanical sensitivity improves in patients with sickle cell disease undergoing chronic transfusion after prolonged, subhemolytic shear exposure.
- Published in:
- 2018
- By:
- Publication type:
- journal article